First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
Korenke
G C
GC
Department of Paediatrics and Neuropaediatrics, University of Göttingen, Germany.
Krasemann
E
E
Meier
V
V
Beuche
W
W
Hunneman
D H
DH
Hanefeld
F
F
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000473:pathology; D019943:Amino Acid Substitution; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D019003:Deoxyribonuclease HpaII / Q000378:metabolism; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D017354:Point Mutation
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D008565:Membrane Proteins; D004247:DNA; D019003:Deoxyribonuclease HpaII